Mutation Details for c.2749T>G

cDNA Name

c.2749T>G

Protein Name

p.Tyr917Asp

Exon or Intron

exon 17

Legacy Exon or Intron

exon 15

Legacy Name

Y917D

Other Details

The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a boy (deceased) whose other CF mutation was [delta]F508. We have seen it only once in 120 samples tested.

Contributors

Schwarz M,
Malone G,
Haworth A
1996-06-10

Institute

Royal Manchester Children's Hospital,
England.

Submitted Phenotype Details

The patient (male, deceased), was born in November 1968. He carried DelF508 on the other allele.
(pers. corr. Schwarz)

Reference

Schwarz et al. (NL#69)

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011